ClinVar Miner

List of variants studied for Lynch syndrome 2 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser) rs749671520 0.00003
NM_000249.4(MLH1):c.92C>G (p.Ala31Gly) rs730882127 0.00003
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994

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